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Krit1 KRIT1, ankyrin repeat containing [ Rattus norvegicus (Norway rat) ]

Gene ID: 362317, updated on 5-Mar-2024

Summary

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Official Symbol
Krit1provided by RGD
Official Full Name
KRIT1, ankyrin repeat containingprovided by RGD
Primary source
RGD:1305929
See related
Ensembl:ENSRNOG00000007937 AllianceGenome:RGD:1305929
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
RGD1305929
Summary
Predicted to enable microtubule binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in several processes, including cell redox homeostasis; negative regulation of endothelial cell apoptotic process; and negative regulation of endothelial cell migration. Predicted to act upstream of or within positive regulation of protein binding activity. Predicted to be located in cell-cell junction and cytoplasm. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in cerebral cavernous malformation and cerebral cavernous malformation 1. Orthologous to human KRIT1 (KRIT1 ankyrin repeat containing). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Heart (RPKM 185.7), Thymus (RPKM 185.0) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
4q13
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (31253918..31288066, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (30299203..30333366, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (27438609..27473150, complement)

Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene mitochondrial transcription termination factor 1 Neighboring gene leucine-rich repeats and death domain containing 1 Neighboring gene uncharacterized LOC134486560 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene DND microRNA-mediated repression inhibitor 1, pseudogene 2 Neighboring gene transmembrane BAX inhibitor motif containing 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Denier C, et al. Ann Neurol, 2004 Feb. PMID 14755725
  2. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Verlaan DJ, et al. Neurology, 2004 Apr 13. PMID 15079030
  3. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. Lucas M, et al. BMC Neurol, 2003 Jul 23. PMID 12877753, Free PMC Article
  4. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. Marini V, et al. J Neurol Sci, 2003 Aug 15. PMID 12810002
  5. KRIT1 regulates the homeostasis of intracellular reactive oxygen species. Goitre L, et al. PLoS One, 2010 Jul 26. PMID 20668652, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cell redox homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell redox homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in integrin activation ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of angiogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of endothelial cell apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of endothelial cell migration ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of endothelial cell proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of establishment of cell polarity ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
krev interaction trapped protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001108618.1 → NP_001102088.1  krev interaction trapped protein 1

    See identical proteins and their annotated locations for NP_001102088.1

    Status: PROVISIONAL

    Source sequence(s)
    CH474013
    UniProtKB/TrEMBL
    A6K277, B5DF47, G3V8Z6
    Related
    ENSRNOP00000031502.4, ENSRNOT00000032505.5
    Conserved Domains (5) summary
    smart00295
    Location:421 → 640
    B41; Band 4.1 homologues
    cd13197
    Location:636 → 735
    FERM_C_CCM1; FERM domain C-lobe of Cerebral cavernous malformation 1
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086022.1 Reference GRCr8

    Range
    31253918..31288066 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039107762.2 → XP_038963690.1  krev interaction trapped protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A8I6G7T1
    Conserved Domains (4) summary
    smart00295
    Location:421 → 578
    B41; Band 4.1 homologues
    sd00045
    Location:291 → 318
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:292 → 386
    Ank_2; Ankyrin repeats (3 copies)
    pfam16705
    Location:30 → 198
    NUDIX_5; NUDIX, or N-terminal NPxY motif-rich, region of KRIT
Nucleotide Protein Strain
Heading Accession and Version

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